| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 7 | g.107917349G>A | CA256137 | DLD | c.1123G>A (p.Glu375Lys) c.*797G>A (n.*797G>A) c.979G>A (p.Glu327Lys) c.1054G>A (p.Glu352Lys) c.826G>A (p.Glu276Lys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.107917349G>C | CA368858265 | DLD | c.1123G>C (p.Glu375Gln) c.*797G>C (n.*797G>C) c.979G>C (p.Glu327Gln) c.1054G>C (p.Glu352Gln) c.826G>C (p.Glu276Gln) | |
| 7 | g.107917349G= | CA1732860040 | DLD | c.1123G= (p.Glu375=) c.*797G= (n.*797G=) c.979G= (p.Glu327=) c.1054G= (p.Glu352=) c.826G= (p.Glu276=) | |
| 7 | g.107917349G>T | CA368858267 | DLD | c.1123G>T (p.Glu375Ter) c.*797G>T (n.*797G>T) c.979G>T (p.Glu327Ter) c.1054G>T (p.Glu352Ter) c.826G>T (p.Glu276Ter) | |
| 7 | g.107917350A>C | CA368858269 | DLD | c.1124A>C (p.Glu375Ala) c.*798A>C (n.*798A>C) c.980A>C (p.Glu327Ala) c.1055A>C (p.Glu352Ala) c.827A>C (p.Glu276Ala) | |
| 7 | g.107917350A>G | CA368858270 | DLD | c.1124A>G (p.Glu375Gly) c.*798A>G (n.*798A>G) c.980A>G (p.Glu327Gly) c.1055A>G (p.Glu352Gly) c.827A>G (p.Glu276Gly) | |
| 7 | g.107917350A>T | CA368858272 | DLD | c.1124A>T (p.Glu375Val) c.*798A>T (n.*798A>T) c.980A>T (p.Glu327Val) c.1055A>T (p.Glu352Val) c.827A>T (p.Glu276Val) | |
| 7 | g.107917351A>C | CA368858273 | DLD | c.1125A>C (p.Glu375Asp) c.*799A>C (n.*799A>C) c.981A>C (p.Glu327Asp) c.1056A>C (p.Glu352Asp) c.828A>C (p.Glu276Asp) | |
| 7 | g.107917351A>G | CA457109462 | DLD | c.1125A>G (p.Glu375=) c.*799A>G (n.*799A>G) c.981A>G (p.Glu327=) c.1056A>G (p.Glu352=) c.828A>G (p.Glu276=) | |
| 7 | g.107917351A>T | CA368858275 | DLD | c.1125A>T (p.Glu375Asp) c.*799A>T (n.*799A>T) c.981A>T (p.Glu327Asp) c.1056A>T (p.Glu352Asp) c.828A>T (p.Glu276Asp) | |
| 7 | g.107917352G>A | CA368858277 | DLD | c.1126G>A (p.Gly376Arg) c.*800G>A (n.*800G>A) c.982G>A (p.Gly328Arg) c.1057G>A (p.Gly353Arg) c.829G>A (p.Gly277Arg) | |
| 7 | g.107917352G>C | CA368858279 | DLD | c.1126G>C (p.Gly376Arg) c.*800G>C (n.*800G>C) c.982G>C (p.Gly328Arg) c.1057G>C (p.Gly353Arg) c.829G>C (p.Gly277Arg) | dbSNP gnomAD v3 gnomAD v4 |
| 7 | g.107917352G= | CA1732860041 | DLD | c.1126G= (p.Gly376=) c.*800G= (n.*800G=) c.982G= (p.Gly328=) c.1057G= (p.Gly353=) c.829G= (p.Gly277=) | |
| 7 | g.107917352G>T | CA368858280 | DLD | c.1126G>T (p.Gly376Ter) c.*800G>T (n.*800G>T) c.982G>T (p.Gly328Ter) c.1057G>T (p.Gly353Ter) c.829G>T (p.Gly277Ter) | |
| 7 | g.107917353G>A | CA368858285 | DLD | c.1127G>A (p.Gly376Glu) c.*801G>A (n.*801G>A) c.983G>A (p.Gly328Glu) c.1058G>A (p.Gly353Glu) c.830G>A (p.Gly277Glu) | dbSNP |
| 7 | g.107917353G>C | CA368858284 | DLD | c.1127G>C (p.Gly376Ala) c.*801G>C (n.*801G>C) c.983G>C (p.Gly328Ala) c.1058G>C (p.Gly353Ala) c.830G>C (p.Gly277Ala) | |
| 7 | g.107917353G= | CA1732860042 | DLD | c.1127G= (p.Gly376=) c.*801G= (n.*801G=) c.983G= (p.Gly328=) c.1058G= (p.Gly353=) c.830G= (p.Gly277=) | |
| 7 | g.107917353G>T | CA368858282 | DLD | c.1127G>T (p.Gly376Val) c.*801G>T (n.*801G>T) c.983G>T (p.Gly328Val) c.1058G>T (p.Gly353Val) c.830G>T (p.Gly277Val) | |
| 7 | g.107917354A>C | CA457109463 | DLD | c.1128A>C (p.Gly376=) c.*802A>C (n.*802A>C) c.984A>C (p.Gly328=) c.1059A>C (p.Gly353=) c.831A>C (p.Gly277=) | |
| 7 | g.107917354A>G | CA457109464 | DLD | c.1128A>G (p.Gly376=) c.*802A>G (n.*802A>G) c.984A>G (p.Gly328=) c.1059A>G (p.Gly353=) c.831A>G (p.Gly277=) | |
| 7 | g.107917354A>T | CA457109465 | DLD | c.1128A>T (p.Gly376=) c.*802A>T (n.*802A>T) c.984A>T (p.Gly328=) c.1059A>T (p.Gly353=) c.831A>T (p.Gly277=) | |
| 7 | g.107917355A= | CA1732860043 | DLD | c.1129A= (p.Met377=) c.*803A= (n.*803A=) c.985A= (p.Met329=) c.1060A= (p.Met354=) c.832A= (p.Met278=) | |
| 7 | g.107917355A>C | CA368858287 | DLD | c.1129A>C (p.Met377Leu) c.*803A>C (n.*803A>C) c.985A>C (p.Met329Leu) c.1060A>C (p.Met354Leu) c.832A>C (p.Met278Leu) | |
| 7 | g.107917355A>G | CA164258401 | DLD | c.1129A>G (p.Met377Val) c.*803A>G (n.*803A>G) c.985A>G (p.Met329Val) c.1060A>G (p.Met354Val) c.832A>G (p.Met278Val) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 7 | g.107917355A>T | CA368858289 | DLD | c.1129A>T (p.Met377Leu) c.*803A>T (n.*803A>T) c.985A>T (p.Met329Leu) c.1060A>T (p.Met354Leu) c.832A>T (p.Met278Leu) | |
| 7 | g.107917356T>A | CA368858291 | DLD | c.1130T>A (p.Met377Lys) c.*804T>A (n.*804T>A) c.986T>A (p.Met329Lys) c.1061T>A (p.Met354Lys) c.833T>A (p.Met278Lys) | |
| 7 | g.107917356T>C | CA368858292 | DLD | c.1130T>C (p.Met377Thr) c.*804T>C (n.*804T>C) c.986T>C (p.Met329Thr) c.1061T>C (p.Met354Thr) c.833T>C (p.Met278Thr) | |
| 7 | g.107917356T>G | CA368858293 | DLD | c.1130T>G (p.Met377Arg) c.*804T>G (n.*804T>G) c.986T>G (p.Met329Arg) c.1061T>G (p.Met354Arg) c.833T>G (p.Met278Arg) | |
| 7 | g.107917357G>A | CA368858295 | DLD | c.1131G>A (p.Met377Ile) c.*805G>A (n.*805G>A) c.987G>A (p.Met329Ile) c.1062G>A (p.Met354Ile) c.834G>A (p.Met278Ile) | dbSNP |
| 7 | g.107917357G>C | CA368858296 | DLD | c.1131G>C (p.Met377Ile) c.*805G>C (n.*805G>C) c.987G>C (p.Met329Ile) c.1062G>C (p.Met354Ile) c.834G>C (p.Met278Ile) | |
| 7 | g.107917357G= | CA1732860044 | DLD | c.1131G= (p.Met377=) c.*805G= (n.*805G=) c.987G= (p.Met329=) c.1062G= (p.Met354=) c.834G= (p.Met278=) | |
| 7 | g.107917357G>T | CA368858297 | DLD | c.1131G>T (p.Met377Ile) c.*805G>T (n.*805G>T) c.987G>T (p.Met329Ile) c.1062G>T (p.Met354Ile) c.834G>T (p.Met278Ile) | |
| 7 | g.107917358G>A | CA368858299 | DLD | c.1132G>A (p.Ala378Thr) c.*806G>A (n.*806G>A) c.988G>A (p.Ala330Thr) c.1063G>A (p.Ala355Thr) c.835G>A (p.Ala279Thr) | |
| 7 | g.107917358G>C | CA368858300 | DLD | c.1132G>C (p.Ala378Pro) c.*806G>C (n.*806G>C) c.988G>C (p.Ala330Pro) c.1063G>C (p.Ala355Pro) c.835G>C (p.Ala279Pro) | |
| 7 | g.107917358G>T | CA368858302 | DLD | c.1132G>T (p.Ala378Ser) c.*806G>T (n.*806G>T) c.988G>T (p.Ala330Ser) c.1063G>T (p.Ala355Ser) c.835G>T (p.Ala279Ser) | |
| 7 | g.107917359C>A | CA368858306 | DLD | c.1133C>A (p.Ala378Asp) c.*807C>A (n.*807C>A) c.989C>A (p.Ala330Asp) c.1064C>A (p.Ala355Asp) c.836C>A (p.Ala279Asp) | |
| 7 | g.107917359C>G | CA368858304 | DLD | c.1133C>G (p.Ala378Gly) c.*807C>G (n.*807C>G) c.989C>G (p.Ala330Gly) c.1064C>G (p.Ala355Gly) c.836C>G (p.Ala279Gly) | |
| 7 | g.107917359C>T | CA368858303 | DLD | c.1133C>T (p.Ala378Val) c.*807C>T (n.*807C>T) c.989C>T (p.Ala330Val) c.1064C>T (p.Ala355Val) c.836C>T (p.Ala279Val) | |
| 7 | g.107917360T>A | CA457109466 | DLD | c.1134T>A (p.Ala378=) c.*808T>A (n.*808T>A) c.990T>A (p.Ala330=) c.1065T>A (p.Ala355=) c.837T>A (p.Ala279=) | |
| 7 | g.107917360T>C | CA457109467 | DLD | c.1134T>C (p.Ala378=) c.*808T>C (n.*808T>C) c.990T>C (p.Ala330=) c.1065T>C (p.Ala355=) c.837T>C (p.Ala279=) | |
| 7 | g.107917360T>G | CA457109468 | DLD | c.1134T>G (p.Ala378=) c.*808T>G (n.*808T>G) c.990T>G (p.Ala330=) c.1065T>G (p.Ala355=) c.837T>G (p.Ala279=) | |
| 7 | g.107917361G>A | CA368858308 | DLD | c.1135G>A (p.Gly379Ser) c.*809G>A (n.*809G>A) c.991G>A (p.Gly331Ser) c.1066G>A (p.Gly356Ser) c.838G>A (p.Gly280Ser) | gnomAD v4 |
| 7 | g.107917361G>C | CA368858309 | DLD | c.1135G>C (p.Gly379Arg) c.*809G>C (n.*809G>C) c.991G>C (p.Gly331Arg) c.1066G>C (p.Gly356Arg) c.838G>C (p.Gly280Arg) | |
| 7 | g.107917361G>T | CA368858310 | DLD | c.1135G>T (p.Gly379Cys) c.*809G>T (n.*809G>T) c.991G>T (p.Gly331Cys) c.1066G>T (p.Gly356Cys) c.838G>T (p.Gly280Cys) | |
| 7 | g.107917362G>A | CA368858312 | DLD | c.1136G>A (p.Gly379Asp) c.*810G>A (n.*810G>A) c.992G>A (p.Gly331Asp) c.1067G>A (p.Gly356Asp) c.839G>A (p.Gly280Asp) | |
| 7 | g.107917362G>C | CA368858314 | DLD | c.1136G>C (p.Gly379Ala) c.*810G>C (n.*810G>C) c.992G>C (p.Gly331Ala) c.1067G>C (p.Gly356Ala) c.839G>C (p.Gly280Ala) | |
| 7 | g.107917362G>T | CA368858315 | DLD | c.1136G>T (p.Gly379Val) c.*810G>T (n.*810G>T) c.992G>T (p.Gly331Val) c.1067G>T (p.Gly356Val) c.839G>T (p.Gly280Val) | |
| 7 | g.107917363T>A | CA457109469 | DLD | c.1137T>A (p.Gly379=) c.*811T>A (n.*811T>A) c.993T>A (p.Gly331=) c.1068T>A (p.Gly356=) c.840T>A (p.Gly280=) | |
| 7 | g.107917363T>C | CA457109470 | DLD | c.1137T>C (p.Gly379=) c.*811T>C (n.*811T>C) c.993T>C (p.Gly331=) c.1068T>C (p.Gly356=) c.840T>C (p.Gly280=) | |
| 7 | g.107917363T>G | CA4434630 | DLD | c.1137T>G (p.Gly379=) c.*811T>G (n.*811T>G) c.993T>G (p.Gly331=) c.1068T>G (p.Gly356=) c.840T>G (p.Gly280=) | dbSNP ExAC gnomAD v2 gnomAD v4 |